Canonical Allele Identifier: CA2613903585
Gene: FADS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61829334_61829335del , CM000673.2:g.61829334_61829335del GRCh38
NC_000011.9:g.61596806_61596807del , CM000673.1:g.61596806_61596807del GRCh37
NC_000011.8:g.61353382_61353383del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.207+737_207+738del MANE Select ENSP00000278840.4:n.207+737_207+738del
ENST00000257261.10:c.142-8444_142-8443del ENSP00000257261.6:n.142-8444_142-8443del
ENST00000278840.8:c.207+737_207+738del ENSP00000278840.4:n.207+737_207+738del
ENST00000517312.5:c.-160+737_-160+738del ENSP00000430225.1:n.-160+737_-160+738del
ENST00000518606.5:c.-160+1903_-160+1904del ENSP00000430054.1:n.-160+1903_-160+1904del
ENST00000521849.5:c.207+737_207+738del ENSP00000431091.1:n.207+737_207+738del
ENST00000522056.5:c.115-8444_115-8443del ENSP00000429500.1:n.115-8444_115-8443del
NM_001281501.1:c.142-8444_142-8443del NP_001268430.1:n.142-8444_142-8443del
NM_001281502.1:c.115-8444_115-8443del NP_001268431.1:n.115-8444_115-8443del
NM_004265.3:c.207+737_207+738del NP_004256.1:n.207+737_207+738del
XM_011545395.1:c.207+737_207+738del XP_011543697.1:n.207+737_207+738del
NM_004265.4:c.207+737_207+738del MANE Select NP_004256.1:n.207+737_207+738del